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"http://reg.genome.network/refseq/RS526025" }, { "@id": "http://reg.genome.network/allele/PA2573274611", "coordinates": [ { "allele": "A", "end": 2617, "referenceAllele": "C", "start": 2616 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.6:c.2427C>A" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Tyr809Ter", "hgvsWellDefined": "NP_066124.1:p.Tyr809_Ser1114delinsGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670171", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.2427C>A" }, "RefSeq": { "hgvs": "NM_020975.6:c.2427C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Tyr809Ter" }, "RefSeq": { "hgvs": "NP_066124.1:p.Tyr809Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829942061", "coordinates": [ { "allele": "A", "end": 2617, "referenceAllele": "C", "start": 2616 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.6:c.2427C>A" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Tyr809Ter", "hgvsWellDefined": "NP_065681.1:p.Tyr809_Phe1072delinsGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728447" } ], "type": "nucleotide" }